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Treatment of multiple craniofacial osteomas by endoscopic approach.

ABSTRACT: Osteomas are benign osteogenic neoplasms that usually occur as solitary craniofacial lesions. Multiple osteomas are rare, particularly those that do not occur as part of an associated syndrome. We report a case of a 72-year-old woman who presented with multiple bony protrusions over the forehead and scalp. She denied any diagnosis of syndromes that are known to be associated with osteomas. Surgical excision was performed by endoscopically resecting more than 30 osteomas of the frontal and bilateral parietal bones. Compared with conventional surgical excision through a direct incision, endoscopic-assisted surgery is a simple and effective method for the treatment of multiple craniofacial osteomas and is associated with excellent cosmetic outcomes and no neurovascular complications.

SUBMITTER: Yoo H

PROVIDER: S-EPMC7463131 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature

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Treatment of multiple craniofacial osteomas by endoscopic approach.

Yoo Hyokyung H Doh Gyeonghyeon G Kim Baek Kyu BK

Archives of craniofacial surgery 20200820 4

Osteomas are benign osteogenic neoplasms that usually occur as solitary craniofacial lesions. Multiple osteomas are rare, particularly those that do not occur as part of an associated syndrome. We report a case of a 72-year-old woman who presented with multiple bony protrusions over the forehead and scalp. She denied any diagnosis of syndromes that are known to be associated with osteomas. Surgical excision was performed by endoscopically resecting more than 30 osteomas of the frontal and bilate ...[more]

PMID: 32867418

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Project description:A broad spectrum of human diseases called ciliopathies is caused by defective primary cilia morphology or signal transduction. The primary cilium is a solitary organelle that responds to mechanical and chemical stimuli from extracellular and intracellular environments. Transmembrane protein 107 (TMEM107) is localized in the primary cilium and is enriched at the transition zone where it acts to regulate protein content of the cilium. Mutations in TMEM107 were previously connected with oral-facial-digital syndrome, Meckel-Gruber syndrome, and Joubert syndrome exhibiting a range of ciliopathic defects. Here, we analyze a role of Tmem107 in craniofacial development with special focus on palate formation, using mouse embryos with a complete knockout of Tmem107. Tmem107-/- mice were affected by a broad spectrum of craniofacial defects, including shorter snout, expansion of the facial midline, cleft lip, extensive exencephaly, and microphthalmia or anophthalmia. External abnormalities were accompanied by defects in skeletal structures, including ossification delay in several membranous bones and enlargement of the nasal septum or defects in vomeronasal cartilage. Alteration in palatal shelves growth resulted in clefting of the secondary palate. Palatal defects were caused by increased mesenchymal proliferation leading to early overgrowth of palatal shelves followed by defects in their horizontalization. Moreover, the expression of epithelial stemness marker SOX2 was altered in the palatal shelves of Tmem107-/- animals, and differences in mesenchymal SOX9 expression demonstrated the enhancement of neural crest migration. Detailed analysis of primary cilia revealed region-specific changes in ciliary morphology accompanied by alteration of acetylated tubulin and IFT88 expression. Moreover, Shh and Gli1 expression was increased in Tmem107-/- animals as shown by in situ hybridization. Thus, TMEM107 is essential for proper head development, and defective TMEM107 function leads to ciliary morphology disruptions in a region-specific manner, which may explain the complex mutant phenotype.

Dataset Information

Treatment of multiple craniofacial osteomas by endoscopic approach.

Publications

Treatment of multiple craniofacial osteomas by endoscopic approach.

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